Results 141 to 150 of about 4,913 (183)

Rapid and reversible regulation of cell cycle progression in budding yeast using optogenetics

Koutsoumpa A, Milias-Argeitis A.
europepmc   +1 more source

Management Strategies for CLN2 Disease [PDF]

Pediatric Neurology, 2017
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death.
Boris Zernikow, Mary-Anne Leung, Angela Schulz   +2 more
exaly   +6 more sources

MRI in CLN2 disease patients: Subtle features that support an early diagnosis [PDF]

European Journal of Paediatric Neurology, 2020
Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised in its early stages by language delay, seizures and loss of motor function. It is rapidly progressive and ultimately results in the premature death of patients.
Cengiz Havali, Senay Haspolat
exaly   +8 more sources

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies [PDF]

Expert Review of Neurotherapeutics, 2021
Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of the most common early symptoms of CLN2 disease, but patients often experience language deficits, movement disorders, and behavioral problems.
Igor Prpic, Ruzica Kravljanac, Pasquale Striano   +2 more
exaly   +6 more sources

Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis [PDF]

Experimental Eye Research, 2015
The CLN2 form of neuronal ceroid lipofuscinosis is an autosomal recessively inherited lysosomal storage disease that is characterized by progressive vision loss culminating in blindness, cognitive and motor decline, neurodegeneration, and premature death.
Martin Katz, Jacqueline W Pearce, Leilani J Castañer   +2 more
exaly   +3 more sources

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Cerliponase alfa for CLN2 disease, a promising therapy

Expert Opinion on Orphan Drugs, 2020
Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare, lysosomal storage disease that causes progressive neurodegeneration in children.
Nicolas J Abreu, Jonathan Pindrik
exaly   +2 more sources

Morphological studies on CLN2

European Journal of Paediatric Neurology, 2001
Electron microscopic, fluorescence microscopic, and immunohistochemical studies earlier performed on archival cerebral tissue from Max Bielchowsky's original three patients revealed curvilinear bodies rich in subunit C of mitochondrial ATP synthase (SCMAS). Recent progress in the elucidation of CLN2, i.e.
H H, Goebel, E, Kominami, E, Neuen-Jacob, R B, Wheeler   +3 more
openaire   +2 more sources

An essential function of Grr1 for the degradation of Cln2 is to act as a binding core that links Cln2 to Skp1

Journal of Cell Science, 1998
ABSTRACT In budding yeast, SCF complexes, composed of Skp1, Cdc53 and one of the F-box proteins, have been implicated in Cdc34-dependent ubiquitination. Grr1, which is required for degradation of G 1 cyclins Cln1 and Cln2 as well as for regulation of glucose repression, is an F-box protein and interacts with Skp1 through the F-box motif.
T, Kishi, F, Yamao
openaire   +2 more sources

A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes

Neurotherapeutics, 2022
CLN2 Batten disease is a lysosomal disorder in which pathogenic variants in CLN2 lead to reduced activity in the enzyme tripeptidyl peptidase 1. The disease typically manifests around 2 to 4 years of age with developmental delay, ataxia, seizures, inability to speak and walk, and fatality between 6 and 12 years of age.
Vicki Swier, Katherine White, Jill M Weimer   +2 more
exaly   +3 more sources